Beggs AH - Search Results

1

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: beggs ah. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.

2

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Laing NG, et al. Among authors: beggs ah. Am J Hum Genet. 1992 Mar;50(3):576-83. Am J Hum Genet. 1992. PMID: 1347195 Free PMC article.

3

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG. Beggs AH, et al. Genomics. 1992 Aug;13(4):1314-5. doi: 10.1016/0888-7543(92)90054-v. Genomics. 1992. PMID: 1505962

4

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy.

North KN, Miller G, Iannaccone ST, Clemens PR, Chad DA, Bella I, Smith TW, Beggs AH, Specht LA. North KN, et al. Among authors: beggs ah. Neurology. 1996 Feb;46(2):461-5. doi: 10.1212/wnl.46.2.461. Neurology. 1996. PMID: 8614513

5

Congenital muscular dystrophy associated with merosin deficiency.

North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH. North KN, et al. Among authors: beggs ah. J Child Neurol. 1996 Jul;11(4):291-5. doi: 10.1177/088307389601100406. J Child Neurol. 1996. PMID: 8807418

6

Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy.

North KN, Beggs AH. North KN, et al. Among authors: beggs ah. Neuromuscul Disord. 1996 Aug;6(4):229-35. doi: 10.1016/0960-8966(96)00361-6. Neuromuscul Disord. 1996. PMID: 8887951

7

51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.

Wallgren-Pettersson C, Beggs AH, Laing NG. Wallgren-Pettersson C, et al. Among authors: beggs ah. Neuromuscul Disord. 1998 Feb;8(1):53-6. Neuromuscul Disord. 1998. PMID: 9565992 No abstract available.

8

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Among authors: beggs ah. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519

9

Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Mills M, et al. Among authors: beggs ah. Hum Mol Genet. 2001 Jun 15;10(13):1335-46. doi: 10.1093/hmg/10.13.1335. Hum Mol Genet. 2001. PMID: 11440986

10

Nemaline myopathy: a clinical study of 143 cases.

Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. Ryan MM, et al. Among authors: beggs ah. Ann Neurol. 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. Ann Neurol. 2001. PMID: 11558787 Review.

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